Variant report

Variant	rs5886000
Chromosome Location	chr7:96648045-96648046
allele	-/CC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
2	SUZ12	chr7:96645469-96648990	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:96628026-96649797	H1-neurons	neurons:	n/a	n/a
4	REST	chr7:96624507-96656402	H1-neurons	neurons:	n/a	chr7:96626900-96626913 chr7:96628274-96628287 chr7:96653242-96653252 chr7:96638441-96638449 chr7:96644780-96644790 chr7:96627625-96627635 chr7:96628223-96628236 chr7:96655951-96655958 chr7:96625513-96625526 chr7:96635204-96635222 chr7:96634677-96634690 chr7:96628302-96628315 chr7:96652071-96652084 chr7:96650634-96650647 chr7:96628298-96628318 chr7:96628298-96628318
5	SUZ12	chr7:96645885-96648969	NT2-D1	testis:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:96648043-96648093	LNCaP	prostate:	n/a
2	chr7:96648043-96648093	MCF-7	breast:	n/a
3	chr7:96648043-96648093	SK-N-MC	brain:	n/a
4	chr7:96648043-96648093	HRPEpiC	eye:	n/a
5	chr7:96648043-96648093	HAEpiC	amniotic membrane:	n/a
6	chr7:96648043-96648093	ovcar-3	ovarian:	n/a
7	chr7:96648043-96648093	SK-N-SH	brain:	n/a
8	chr7:96648043-96648093	AG09319	gingival:	n/a
9	chr7:96648043-96648093	HCPEpiC	choroid plexus:	n/a
10	chr7:96648043-96648093	GM06990	blood:	n/a
11	chr7:96648043-96648093	NHBE	bronchial:	n/a
12	chr7:96648043-96648093	AG04449	skin:	fetal
13	chr7:96648043-96648093	GM12892	blood:	n/a
14	chr7:96648043-96648093	H1-hESC	embryonic stem cell:	embryo
15	chr7:96648043-96648093	BJ	skin:	n/a
16	chr7:96648043-96648093	Hela-S3	cervix:	n/a
17	chr7:96648043-96648093	K562	blood:	n/a
18	chr7:96648043-96648093	NT2-D1	testis:	n/a
19	chr7:96648043-96648093	HEK293	kidney:	embryo
20	chr7:96648043-96648093	HCF	heart:	n/a
21	chr7:96648043-96648093	HCT-116	colon:	n/a
22	chr7:96648043-96648093	RPTEC	kidney:	n/a
23	chr7:96648043-96648093	AG09309	skin:	n/a
24	chr7:96648043-96648093	Jurkat	blood:	n/a
25	chr7:96648043-96648093	IMR90	lung:	fetal
26	chr7:96648043-96648093	ProgFib	skin:	n/a
27	chr7:96648043-96648093	AoSMC	blood vessel:	n/a
28	chr7:96648043-96648093	HIPEpiC	eye:	n/a
29	chr7:96648043-96648093	Caco-2	colon:	n/a
30	chr7:96648043-96648093	Hepatocyte	liver:	n/a
31	chr7:96648043-96648093	AG04450	lung:	fetal
32	chr7:96648043-96648093	MCF10A-Er-Src	breast:	n/a
33	chr7:96648043-96648093	HRE	kidney:	n/a
34	chr7:96648043-96648093	HCM	heart:	n/a
35	chr7:96648043-96648093	HPAEpiC	pulmonary alveolar:	n/a
36	chr7:96648043-96648093	HL-60	blood:	n/a
37	chr7:96648043-96648093	NB4	blood:	n/a
38	chr7:96648043-96648093	HUVEC	blood vessel:	n/a
39	chr7:96648043-96648093	SKMC	muscle:	n/a
40	chr7:96648043-96648093	HEEpiC	esophagus:	n/a
41	chr7:96648043-96648093	NHDF-neo	bronchial:	n/a
42	chr7:96648043-96648093	CMK	blood:	n/a
43	chr7:96648043-96648093	SK-N-SH_RA	brain:	n/a
44	chr7:96648043-96648093	BE2_C	brain:	n/a
45	chr7:96648043-96648093	HNPCEpiC	eye:	n/a
46	chr7:96648043-96648093	SAEC	small airway:	n/a
47	chr7:96648043-96648093	NH-A	brain:	n/a
48	chr7:96648043-96648093	PrEC	prostate:	n/a
49	chr7:96648043-96648093	HRCEpiC	kidney:	n/a
50	chr7:96648043-96648093	PANC-1	pancreas:	n/a

Variant related genes	Relation type
DLX6-AS1	TF binding region
DLX6-AS1	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3337466	chr7:96647166-96649364	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv353288	chr7:96648045-96648046	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	esv1938679	chr7:96648045-96648047	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96644600-96648200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:96645200-96651600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:96645400-96648400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr7:96645600-96648200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:96645800-96648200	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr7:96646600-96648200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:96647000-96650200	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr7:96647000-96655200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr7:96647400-96648400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:96647600-96650200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
11	chr7:96647600-96650400	Weak transcription	Pancreas	Pancrea
12	chr7:96647800-96648200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:96647800-96648400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:96647800-96648400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:96647800-96648600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:96647800-96648600	Active TSS	Osteobl	bone
17	chr7:96647800-96649000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:96648000-96648200	Bivalent/Poised TSS	Right Ventricle	heart
19	chr7:96648000-96648400	Active TSS	Right Atrium	heart
20	chr7:96648000-96648800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr7:96648000-96654000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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